Results 81 to 90 of about 7,515 (243)

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Pediatric Allergy and Immunology, Volume 36, Issue 11, November 2025.
Abstract Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE.
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, Primary Atopic Disorders Working Group, on behalf of the Italian Society of Pediatric Allergy and Immunology (SIAIP), Salvatore Barberi, Anna Belloni Fortina, Roberto Berni Canani, Paolo Bottau, Carlo Caffarelli, Mauro Calvani, Antonella Cianferoni, Francesco Cinetto, Bianca Laura Cinicola, Emilia Cirillo, Francesca Conti, Laura Dotta, Marzia Duse, Silvia Federici, Alessandro Fiocchi, Elena Galli, Silvia Giliani, Giuliana Giardino, Cristiana Indolfi, Lucia Leonardi, Amelia Licari, Vassilios Lougaris, Sara Manti, Alberto Martelli, Domenico Minasi, Elio Novembre, Riccardo Papa, Claudio Pignata, Federica Pulvirenti, Maria Sangerardi, Annarosa Soresina, Mariangela Tosca, Alberto Giovanni Ugazio, Anna Maria Zicari   +46 more
wiley   +1 more source

Classical Juvenile Pityriasis Rubra Pilaris Treated With Secukinumab: Case Report and a Review of Biological Treatments in the Pediatric Population

Pediatric Dermatology, Volume 42, Issue 6, Page 1214-1220, November/December 2025.
ABSTRACT Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous disorder with limited treatment options in pediatric patients. We report the case of a 9‐year‐old boy with juvenile PRP (type III), who achieved complete disease remission after treatment with secukinumab, an IL‐17A inhibitor, following initial therapeutic resistance to topical ...
Zeno Fratton, Giuseppe Stinco, Enzo Errichetti   +2 more
wiley   +1 more source

Olmsted Syndrome: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Leukoencephalopathy and Keratoderma

Pediatric Neurology Briefs, 1995
A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel.
J Gordon Millichap
doaj   +1 more source

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ...
Ahmed Alanzi, Dawood Alatefi, Malik Alkabazi, Bano Alsaleh, Amir Fouad, Islam Al Oraby   +5 more
wiley   +1 more source

Você conhece esta síndrome? Do you know this Syndrome?

Anais Brasileiros de Dermatologia, 2008
A síndrome de Papillon-Lefèvre ou queratodermia transgressiva com periodontopatia é genodermatose rara, com acometimento cutâneo e dentário. As alterações aparecem por volta do primeiro ano de vida, com queratodermia transgressiva palmoplantar associada ...
Flávia Regina Coeli, Danielle Mazziero Macedo, Mariana Dias Batista, Silmara da Costa Pereira Cestari, Osmar Rotta   +4 more
doaj   +1 more source

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]

, 2019
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil, Alabdulkareem, Adnan S., Alakloby, Omar Mohammed, Alawbathani, Salem, Alnutaifi, Kholood Abdulaziz, Altmüller, Janine, Borck, Guntram, Cunha, Dulce Lima, Eckl, Katja, Gruber, Robert, Hennies, Hans Christian, Kakar, Naseebullah, Krabichler, Birgit, Nurnberg, Peter, Plank, Roswitha, Schmuth, Matthias, Zschocke, Johannes   +16 more
core   +4 more sources

Tofacitinib: A Promising Therapeutic Option for Refractory Pityriasis Rubra Pilaris—A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disorder that can severely impact the quality of life in patients, particularly when presenting in chronic or refractory form. Emerging evidence suggests that JAK inhibitors may offer a potential treatment option.
Mahsa Taremi, Nikoo Mozafari
wiley   +1 more source

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14 [PDF]

, 2018
Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance.
Hsu, C-K, Levell, N J, Lwin, S M, McGrath, J A   +3 more
core   +1 more source